NM_000497.4(CYP11B1):c.168G>A (p.Trp56Ter) AND Deficiency of steroid 11-beta-monooxygenase

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 23, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000672260.1

Allele description [Variation Report for NM_000497.4(CYP11B1):c.168G>A (p.Trp56Ter)]

NM_000497.4(CYP11B1):c.168G>A (p.Trp56Ter)

Gene:

CYP11B1:cytochrome P450 family 11 subfamily B member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_000497.4(CYP11B1):c.168G>A (p.Trp56Ter)

HGVS:

NC_000008.11:g.142879646C>T
NG_007954.1:g.5175G>A
NG_055454.1:g.24C>T
NM_000497.4:c.168G>AMANE SELECT
NM_001026213.1:c.168G>A
NP_000488.3:p.Trp56Ter
NP_000488.3:p.Trp56Ter
NP_001021384.1:p.Trp56Ter
NC_000008.10:g.143961062C>T
NM_000497.3:c.168G>A

Protein change:

W56*

Links:

dbSNP: rs1383321200

NCBI 1000 Genomes Browser:

rs1383321200

Molecular consequence:

NM_000497.4:c.168G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001026213.1:c.168G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Deficiency of steroid 11-beta-monooxygenase (CYP11B1)
Synonyms:: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY; 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008729; MedGen: C0268292; OMIM: 202010

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000797351	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Jan 23, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000797351

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Jan 23, 2018)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Chimeric CYP11B2/CYP11B1 causing 11β-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia.

Xu L, Xia W, Wu X, Wang X, Zhao L, Nie M.

Steroids. 2015 Sep;101:51-5. doi: 10.1016/j.steroids.2015.06.002. Epub 2015 Jun 9.

PubMed [citation]

PMID:: 26066897

Details of each submission

From Counsyl, SCV000797351.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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